{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T04:28:57Z","timestamp":1789964937713,"version":"4.0.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T00:00:00Z","timestamp":1363046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 2p15\u2010p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11\u2010year\u2010old female showing clinical features consistent with the syndrome and carrying a de novo 0.45\u2009Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein\u2010coding RefSeq genes, <jats:italic>BCL11A<\/jats:italic>, <jats:italic>PAPOLG<\/jats:italic>, and <jats:italic>REL<\/jats:italic>, and one long non\u2010coding RNA gene <jats:italic>FLJ16341<\/jats:italic>. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35783","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T02:57:45Z","timestamp":1363229865000},"page":"865-870","source":"Crossref","is-referenced-by-count":38,"title":["A patient with de novo 0.45\u2009Mb deletion of 2p16.1: The role of <i>BCL11A<\/i>, <i>PAPOLG<\/i>, <i>REL<\/i>, and <i>FLJ16341<\/i> in the 2p15\u2010p16.1 microdeletion 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